{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:24:34Z","timestamp":1760783074862,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,8]]},"abstract":"<jats:p>A family is described in which at least six members have an unusual form of acrocephalosyndactyly showing autosomal dominant inheritance. The most characteristic feature in the more severely affected individuals is duplication of the distal phalanx of the hallux. Review of family photographs suggests that the cosmetic outcome in apparently affected infants may be much better than anticipated.<\/jats:p>","DOI":"10.1136\/jmg.19.4.286","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"286-288","source":"Crossref","is-referenced-by-count":12,"title":["An unusual form of familial acrocephalosyndactyly."],"prefix":"10.1136","volume":"19","author":[{"given":"I D","family":"Young","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P S","family":"Harper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1982,8,1]]},"reference":[{"issue":"5","key":"ref_1","first-page":"13","article-title":"Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating","volume":"15","author":"Cohen, M.M.","year":"1979","unstructured":"Cohen MM. Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating. Birth Defects 1979; 15\/5B:13-63.","journal-title":"Birth Defects"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/j.1399-0004.1977.tb00920.x","article-title":"On the classification of the acrocephalosyndactyly syndromes","volume":"12","author":"Escobar, V.; Bixler, D.","year":"1977","unstructured":"Escobar V, Bixler D. On the classification of the acrocephalosyndactyly syndromes. Clin Genet 1977;12:169-78.","journal-title":"Clin Genet"},{"issue":"5","key":"ref_3","first-page":"99","article-title":"Acrocephalopolysyndactyly, type Noack, in a large kindred","volume":"11","author":"Robinow, M.; Sorauf, T.J.","year":"1975","unstructured":"Robinow M, Sorauf TJ. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects 1975;11\/5: 99-106.","journal-title":"Birth Defects"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1136\/jmg.19.4.280","article-title":"A family study of craniosynostosis, with probable recognition of a distinct syndrome","volume":"19","author":"Carter, C.O.; Till, K.; Fraser, V.; Coffey, R.","year":"1982","unstructured":"Carter CO, Till K, Fraser V, Coffey R. A family study of craniosynostosis, with probable recognition of a distinct syndrome.J Med Genet 1982;19:280-5.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/jmg.18.1.73","article-title":"Variable expression in Pfeiffer syndrome","volume":"18","author":"Sanchez, J.M.; De Negrotti, T.C.","year":"1981","unstructured":"Sanchez JM, De Negrotti TC. Variable expression in Pfeiffer syndrome. J Med Genet 1981;18:73-5.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1001\/archpedi.1971.02100140123018","article-title":"Pfeiffer syndrome: an unusual type of acrocephalosyndactyly with broad thumbs and great toes","volume":"121","author":"Martsolf, J.T.; Cracco, J.B.; Carpenter, G.G.; O'Hara, A.E.","year":"1971","unstructured":"Martsolf JT, Cracco JB, Carpenter GG, O'Hara AE. Pfeiffer syndrome: an unusual type of acrocephalosyndactyly with broad thumbs and great toes. Am J Dis Child 1971;121:257-62.","journal-title":"Am J Dis Child"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"609","DOI":"10.2214\/ajr.116.3.609","article-title":"Familial acrocephalosyndactyly (Pfeiffer syndrome)","volume":"116","author":"Saldino, R.M.; Steinbach, H.L.; Epstein, C.J.","year":"1972","unstructured":"Saldino RM, Steinbach HL, Epstein CJ. Familial acrocephalosyndactyly (Pfeiffer syndrome). AJR 1972; 116:609-22.","journal-title":"AJR"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.4.286","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:22:54Z","timestamp":1759724574000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.4.286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,8]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1982,8,1]]},"published-print":{"date-parts":[[1982,8]]}},"alternative-id":["10.1136\/jmg.19.4.286"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.4.286","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1982,8]]}}}